DNMT3A c.2444T>C ;(p.L815P)

Variant ID: 2-25459839-A-G

NM_022552.4(DNMT3A):c.2444T>C;(p.L815P)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.

Journal Of Personalized Medicine
Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D
Publication Date: 2023-03-11

Variant appearance in text: DNMT3A: 2444T>C; L815P
PubMed Link: 36983691
Variant Present in the following documents:
  • jpm-13-00508.pdf
View BVdb publication page



Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Frontiers In Genetics
Gatua, Mercy M; Navari, Mohsen M; Ong'ondi, Matilda M; Onyango, Noel N; Kaggia, Serah S; Rogena, Emily E; Visani, Giuseppe G; Abinya, Nicholas A NA; Piccaluga, Pier Paolo PP
Publication Date: 2022

Variant appearance in text: DNMT3A: 2444T>C; L815P
PubMed Link: 35836575
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 2
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: DNMT3A: 2444T>C
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM5_ESM.xls, sheet 1
  • 12920_2020_668_MOESM6_ESM.xls, sheet 1
View BVdb publication page



Concomitant isochromosome 17q and mutated SETBP1 in a myelodysplastic syndrome patient with a poor prognosis.

International Journal Of Clinical And Experimental Pathology
Xu, Qian Q; Liu, Chunxia C; Zhang, Hao H; Liu, Huan H; Xue, Mingming M; Zhang, Shuling S; Liu, Bei B
Publication Date: 2017

Variant appearance in text: DNMT3A: 2444T>C; Leu815Pro
PubMed Link: 31966863
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Cells
Hartman, Mariusz L ML; Sztiller-Sikorska, Malgorzata M; Gajos-Michniewicz, Anna A; Czyz, Malgorzata M
Publication Date: 2020-01-07

Variant appearance in text: DNMT3A: L815P
PubMed Link: 31936151
Variant Present in the following documents:
  • cells-09-00142-s001.pdf
View BVdb publication page



High-throughput single-cell DNA sequencing of acute myeloid leukemia tumors with droplet microfluidics.

Genome Research
Pellegrino, Maurizio M; Sciambi, Adam A; Treusch, Sebastian S; Durruthy-Durruthy, Robert R; Gokhale, Kaustubh K; Jacob, Jose J; Chen, Tina X TX; Geis, Jennifer A JA; Oldham, William W; Matthews, Jairo J; Kantarjian, Hagop H; Futreal, P Andrew PA; Patel, Keyur K; Jones, Keith W KW; Takahashi, Koichi K; Eastburn, Dennis J DJ
Publication Date: 2018-09

Variant appearance in text: DNMT3A: L815P
PubMed Link: 30087104
Variant Present in the following documents:
  • Main text
  • supp_gr.232272.117_Supplemental_Table_S2.pdf
  • 1345.pdf
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: DNMT3A: 2444T>C; Leu815Pro
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 3
  • bty518_supplementary_data_s2.xlsx, sheet 3
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: DNMT3A: L815P
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s3.xlsx, sheet 1
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children.

Leukemia
Fu, R R; Liu, D D; Cao, Z Z; Zhu, S S; Li, H H; Su, H H; Zhang, L L; Xue, F F; Liu, X X; Zhang, X X; Cheng, T T; Yang, R R; Zhang, L L
Publication Date: 2016-03

Variant appearance in text: DNMT3A: L815P
PubMed Link: 26118316
Variant Present in the following documents:
  • leu2015167x1.pdf
View BVdb publication page